Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018

2010
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The molecular landscape of ASPM mutations in primary microcephaly. 19028728

2009
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 19770472

2009
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 19332161

2009
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 18452193

2008
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 15806441

2005
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR ASPM mutations identified in patients with primary microcephaly and seizures. 16141009

2005
dbSNP: rs1189399471
rs1189399471
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002